You are here:

Congenital spherocytic anemia

Definition

Congenital spherocytic anemia is a disorder of the surface layer (membrane) of red blood cells. It leads to red blood cells that are shaped like spheres, and premature breakdown of red blood cells (hemolytic anemia).

Figures

Alternative Names

Hereditary spherocytosis; Spherocytosis

Causes, incidence, and risk factors

This disorder is caused by a defective gene. The defect results in an abnormal red blood cell membrane. The affected cells have a smaller surface area for their volume than normal red blood cells, and can break open easily. Having a family history of spherocytosis increases the risk for this disorder.

The anemia can vary from mild to severe. In severe cases the disorder may be found in early childhood. In mild cases it may go unnoticed until adulthood.

This disorder is most common in people of northern European descent, but it has been found in all races.

Symptoms

Infants may have yellowing of the skin and eyes (jaundice) and pale coloring (pallor).

Other symptoms may include:

Signs and tests

In most cases, the spleen is enlarged.

Laboratory tests can help diagnose this condition. Tests may include:

Blood smear to show abnormally shaped cells
Bilirubin level
Complete blood count to check for anemia
Coombs' test
LDH level
Osmotic fragility
Reticulocyte count

Treatment

Surgery to remove the spleen (splenectomy) cures the anemia but doesn't correct the abnormal cell shape.

Families with a history of spherocytosis should have their children screened for this disorder.

Children should wait until age 5 to have splenectomy because of the infection risk. In mild cases discovered in adults, it may not be necessary to remove the spleen.

Children and adults should be given a pneumococcal vaccine before spleen removal surgery, and also may receive folic acid supplements. Additional vaccines may be indicated based on the patient’s history.

Expectations (prognosis)

This outcome is usually good with treatment. After the spleen is removed, the life span of the red blood cell returns to normal.

Complications

Gallstones
Much lower red blood cell production (aplastic crisis) caused by a viral infection, which can make anemia worse

Calling your health care provider

Call your health care provider for an appointment if your symptoms get worse, do not improve with treatment, or if you develop new symptoms.

Prevention

This is an inherited disorder and may not be preventable. Being aware of your risk, such as a family history of the disorder, may help you get diagnosed and treated early.

References

Schwartz RS. Autoimmune and intravascular hemolytic anemias In: Goldman L, Schafer AI, eds. Cecil Medicine. 24th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 163.

Disclaimers

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions.
Call 911 for all medical emergencies.
Links to other sites are provided for information only -- they do not constitute endorsements of those other sites.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).